Mutagenetix > Incidental Mutations

Incidental Mutation 'R4708:Nlrp9c'

355409

Institutional Source

Beutler Lab

Gene Symbol

Nlrp9c

Ensembl Gene

ENSMUSG00000040614

Gene Name

NLR family, pyrin domain containing 9C

Synonyms

Nalp9c, Nalp-zeta

MMRRC Submission

042017-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4708 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26322473-26403700 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26384840 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 438 (M438K)

Ref Sequence

ENSEMBL: ENSMUSP00000083106 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041845] [ENSMUST00000085944]

Predicted Effect

probably benign
Transcript: ENSMUST00000041845
AA Change: M438K

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000036041
Gene: ENSMUSG00000040614
AA Change: M438K

Domain	Start	End	E-Value	Type
PYRIN	5	87	7.64e-22	SMART
Pfam:NACHT	143	310	5.2e-31	PFAM
LRR	637	664	4.36e1	SMART
Blast:LRR	666	691	3e-6	BLAST
LRR	693	720	1.02e0	SMART
LRR	722	749	3e0	SMART
LRR	750	777	6.88e-4	SMART
LRR	779	806	5.06e0	SMART
LRR	807	834	1.22e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000085944
AA Change: M438K

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000083106
Gene: ENSMUSG00000040614
AA Change: M438K

Domain	Start	End	E-Value	Type
PYRIN	5	87	7.64e-22	SMART
Pfam:NACHT	143	310	2.8e-31	PFAM
LRR	631	658	7.49e0	SMART
LRR	692	719	4.36e1	SMART
Blast:LRR	721	746	8e-6	BLAST
LRR	748	775	1.02e0	SMART
LRR	777	804	3e0	SMART
LRR	805	832	6.88e-4	SMART
LRR	834	861	2.17e0	SMART
LRR	862	889	2.12e-4	SMART
LRR	919	946	1.22e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160948

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

97% (68/70)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	G	A	7: 41,611,885	G2D	probably damaging	Het
4930430F08Rik	T	C	10: 100,578,381	I139V	probably benign	Het
4930505A04Rik	T	C	11: 30,454,717	Y62C	probably damaging	Het
4931408C20Rik	A	T	1: 26,684,440	V553D	possibly damaging	Het
Aadacl4	A	C	4: 144,623,329	K385N	probably benign	Het
Abcb4	A	T	5: 8,915,125	T332S	possibly damaging	Het
Aco2	G	A	15: 81,909,916		probably null	Het
Aplf	G	T	6: 87,663,757	S69Y	probably damaging	Het
Arhgap27	A	G	11: 103,333,562		probably benign	Het
B4galnt1	T	A	10: 127,169,815	Y262N	probably damaging	Het
Bag4	C	T	8: 25,769,488	A228T	probably benign	Het
BC017158	A	G	7: 128,274,680	V345A	probably benign	Het
Ccdc62	T	G	5: 123,930,862		probably null	Het
Cd109	T	A	9: 78,672,589	I649K	probably benign	Het
Cd209b	T	C	8: 3,924,215	E99G	probably damaging	Het
Cep290	A	G	10: 100,523,264	K952R	probably benign	Het
Ces2a	A	G	8: 104,737,306	H190R	probably benign	Het
Clec14a	A	G	12: 58,267,703	S378P	probably benign	Het
Col27a1	A	G	4: 63,283,913	Q947R	probably benign	Het
Dennd3	A	G	15: 73,523,495	T146A	probably damaging	Het
Dpy19l4	T	A	4: 11,277,970	M486L	probably benign	Het
Dysf	C	A	6: 84,097,715	D499E	probably damaging	Het
Eif4enif1	T	G	11: 3,220,323	H125Q	probably damaging	Het
Fam35a	A	G	14: 34,267,833	V372A	probably benign	Het
Fcgbp	A	T	7: 28,094,961	M1197L	probably benign	Het
Fubp3	C	T	2: 31,608,110	T92I	probably benign	Het
Gm19426	T	C	2: 84,743,459		probably null	Het
Gtf2ird2	A	G	5: 134,216,298	H466R	probably damaging	Het
Hdac5	T	C	11: 102,202,193	S573G	probably damaging	Het
Iars2	A	T	1: 185,289,357	M916K	probably benign	Het
Insr	A	T	8: 3,211,346		probably benign	Het
Itgam	T	C	7: 128,101,537	V493A	probably damaging	Het
Ivl	T	A	3: 92,571,750	K336I	probably damaging	Het
Kcng2	A	G	18: 80,322,852	I95T	probably damaging	Het
Lap3	A	G	5: 45,511,138	R431G	probably damaging	Het
Lrrc66	T	C	5: 73,629,662	H115R	probably benign	Het
Morc3	T	C	16: 93,873,238	V767A	probably benign	Het
Mttp	A	G	3: 138,134,098		probably benign	Het
Myo1c	C	T	11: 75,670,030	R770*	probably null	Het
Nat9	G	A	11: 115,183,443	T133M	probably damaging	Het
Nectin4	T	C	1: 171,385,146	I349T	probably benign	Het
Nlrp4a	A	G	7: 26,464,108	E900G	probably benign	Het
Olfr1384	T	A	11: 49,514,389	Y250*	probably null	Het
Olfr1444	A	T	19: 12,861,897	I41F	probably benign	Het
Olfr551	A	T	7: 102,587,836	D302E	probably benign	Het
Parp6	T	C	9: 59,641,769	I507T	probably damaging	Het
Pde6c	G	A	19: 38,180,893	E804K	possibly damaging	Het
Plscr2	A	G	9: 92,291,014	Y203C	probably damaging	Het
Ptprs	A	G	17: 56,428,067	W216R	probably damaging	Het
Rhof	T	A	5: 123,120,391	T126S	probably benign	Het
Riox2	A	G	16: 59,475,682	I49V	probably benign	Het
Tmc6	A	T	11: 117,768,948	C750S	probably benign	Het
Tmem231	C	A	8: 111,933,786		probably benign	Het
Tmem94	T	A	11: 115,786,295	I131N	possibly damaging	Het
Tmx3	T	C	18: 90,521,039		probably null	Het
Tnfrsf21	C	T	17: 43,038,232	T245I	possibly damaging	Het
Ttbk2	C	A	2: 120,739,861	R1201S	probably damaging	Het
Vmn2r102	A	T	17: 19,694,314	M714L	probably benign	Het
Vmn2r109	A	G	17: 20,541,343	L584S	probably damaging	Het
Vmn2r53	T	A	7: 12,601,202	H177L	probably benign	Het
Vnn1	T	A	10: 23,897,352	D92E	probably benign	Het
Zan	T	C	5: 137,446,712	I1762V	unknown	Het
Zbtb20	G	T	16: 43,610,676	A517S	probably damaging	Het
Zfhx4	A	G	3: 5,245,503		probably null	Het
Zfp560	T	C	9: 20,351,918	E54G	possibly damaging	Het
Zfp719	C	T	7: 43,590,232	H415Y	probably damaging	Het
Zmynd11	A	C	13: 9,695,753	V188G	probably damaging	Het

Other mutations in Nlrp9c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Nlrp9c	APN	7	26384588	missense	probably benign	0.00
IGL00814:Nlrp9c	APN	7	26384750	missense	probably benign	0.23
IGL00919:Nlrp9c	APN	7	26394056	nonsense	probably null
IGL01762:Nlrp9c	APN	7	26385425	missense	probably damaging	1.00
IGL01928:Nlrp9c	APN	7	26375422	splice site	probably benign
IGL02008:Nlrp9c	APN	7	26385151	missense	probably benign	0.16
IGL02389:Nlrp9c	APN	7	26394207	missense	probably benign
IGL02535:Nlrp9c	APN	7	26372097	missense	probably damaging	1.00
IGL02685:Nlrp9c	APN	7	26385557	missense	probably damaging	0.98
IGL02904:Nlrp9c	APN	7	26375290	missense	probably damaging	1.00
IGL02935:Nlrp9c	APN	7	26385276	missense	probably benign	0.00
IGL03006:Nlrp9c	APN	7	26372082	missense	probably damaging	0.98
IGL03140:Nlrp9c	APN	7	26380489	missense	probably benign	0.30
IGL03201:Nlrp9c	APN	7	26385108	missense	probably benign	0.00
IGL03243:Nlrp9c	APN	7	26365032	missense	probably damaging	0.99
IGL03054:Nlrp9c	UTSW	7	26382276	splice site	probably null
K7894:Nlrp9c	UTSW	7	26384898	missense	possibly damaging	0.94
R0018:Nlrp9c	UTSW	7	26371998	missense	possibly damaging	0.89
R0018:Nlrp9c	UTSW	7	26371998	missense	possibly damaging	0.89
R0238:Nlrp9c	UTSW	7	26378012	missense	possibly damaging	0.90
R0238:Nlrp9c	UTSW	7	26378012	missense	possibly damaging	0.90
R0335:Nlrp9c	UTSW	7	26394136	missense	possibly damaging	0.92
R0391:Nlrp9c	UTSW	7	26371476	splice site	probably benign
R0433:Nlrp9c	UTSW	7	26385819	missense	probably benign	0.20
R1035:Nlrp9c	UTSW	7	26371277	splice site	probably benign
R1118:Nlrp9c	UTSW	7	26384437	missense	probably benign	0.01
R1119:Nlrp9c	UTSW	7	26384437	missense	probably benign	0.01
R1173:Nlrp9c	UTSW	7	26380435	missense	probably damaging	1.00
R1519:Nlrp9c	UTSW	7	26378101	missense	possibly damaging	0.88
R1528:Nlrp9c	UTSW	7	26382298	missense	probably damaging	0.99
R1616:Nlrp9c	UTSW	7	26384437	missense	probably benign	0.01
R1774:Nlrp9c	UTSW	7	26394118	missense	probably benign	0.05
R1789:Nlrp9c	UTSW	7	26380490	missense	probably benign	0.00
R1869:Nlrp9c	UTSW	7	26384820	nonsense	probably null
R1870:Nlrp9c	UTSW	7	26384820	nonsense	probably null
R1920:Nlrp9c	UTSW	7	26384894	missense	probably damaging	1.00
R1987:Nlrp9c	UTSW	7	26378056	missense	probably benign	0.31
R2022:Nlrp9c	UTSW	7	26384796	missense	probably damaging	1.00
R2309:Nlrp9c	UTSW	7	26378087	missense	probably damaging	1.00
R2327:Nlrp9c	UTSW	7	26375322	missense	probably damaging	1.00
R3405:Nlrp9c	UTSW	7	26385282	missense	probably benign	0.01
R3548:Nlrp9c	UTSW	7	26371451	missense	probably damaging	1.00
R3846:Nlrp9c	UTSW	7	26382276	splice site	probably null
R4179:Nlrp9c	UTSW	7	26384661	missense	possibly damaging	0.74
R4460:Nlrp9c	UTSW	7	26378098	missense	probably damaging	1.00
R4669:Nlrp9c	UTSW	7	26375368	missense	possibly damaging	0.90
R4810:Nlrp9c	UTSW	7	26378177	splice site	probably null
R4824:Nlrp9c	UTSW	7	26380564	missense	possibly damaging	0.49
R4915:Nlrp9c	UTSW	7	26384460	missense	probably benign	0.34
R4996:Nlrp9c	UTSW	7	26385747	missense	possibly damaging	0.92
R5468:Nlrp9c	UTSW	7	26365000	missense	probably benign	0.00
R5525:Nlrp9c	UTSW	7	26384501	missense	probably damaging	1.00
R5526:Nlrp9c	UTSW	7	26382366	missense	possibly damaging	0.95
R6020:Nlrp9c	UTSW	7	26384725	missense	probably benign	0.08
R6175:Nlrp9c	UTSW	7	26378001	splice site	probably null
R6454:Nlrp9c	UTSW	7	26385774	missense	possibly damaging	0.91
R6493:Nlrp9c	UTSW	7	26382387	missense	probably damaging	1.00
R6649:Nlrp9c	UTSW	7	26371322	missense	probably damaging	1.00
R6653:Nlrp9c	UTSW	7	26371322	missense	probably damaging	1.00
R6739:Nlrp9c	UTSW	7	26385425	missense	probably damaging	0.99
R6883:Nlrp9c	UTSW	7	26378131	missense	probably benign	0.18
R7097:Nlrp9c	UTSW	7	26385621	missense	probably damaging	1.00
R7122:Nlrp9c	UTSW	7	26385621	missense	probably damaging	1.00
R7174:Nlrp9c	UTSW	7	26385297	missense	probably benign	0.03
R7365:Nlrp9c	UTSW	7	26371397	missense	possibly damaging	0.93
R7378:Nlrp9c	UTSW	7	26365015	missense	probably benign	0.14
R7427:Nlrp9c	UTSW	7	26371435	missense	probably benign	0.00
R7450:Nlrp9c	UTSW	7	26364939	missense	probably benign	0.45
R7999:Nlrp9c	UTSW	7	26385489	missense	possibly damaging	0.94
R8036:Nlrp9c	UTSW	7	26371439	missense	possibly damaging	0.49
R8056:Nlrp9c	UTSW	7	26385687	missense	probably damaging	1.00
R8249:Nlrp9c	UTSW	7	26375353	nonsense	probably null
RF020:Nlrp9c	UTSW	7	26385224	missense	probably benign
X0065:Nlrp9c	UTSW	7	26380430	missense	probably damaging	0.99
Z1177:Nlrp9c	UTSW	7	26382348	missense	probably benign	0.28
Z1177:Nlrp9c	UTSW	7	26384775	missense	probably damaging	1.00
Z1177:Nlrp9c	UTSW	7	26384825	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- AGCATGGTTTAAGCAAAGTGATCAC -3'
(R):5'- TCAATATTTGGCTTGGGCTCATC -3'

Sequencing Primer
(F):5'- GCAAAGTGATCACATGTTTAGTGGC -3'
(R):5'- GGCTTGGGCTCATCTAAATACAAG -3'

Posted On

2015-10-21